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CDK13

cyclin dependent kinase 13

HCNC Approved Symbol
CDK13 (HGNC:1733)
Genomic Coordinates
7:39,950,256 - 40,099,580 (7p14.1)
Synonyms
CHED, CDC2L, KIAA1791, CDC2L5
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
617360AD

Diagnosed Cases

18Patients

In total, 18 patients were diagnosed with a variant in the CDK13 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hypertelorism
 5 (27.8%)
Global developmental delay
 5 (27.8%)
Atrial septal defect
 3 (16.7%)
Low set ears
 3 (16.7%)
Short philtrum
 3 (16.7%)